Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1 | 247442297 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||||
|
6 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
4 | 1.000 | 0.080 | 1 | 154447611 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2009 | 2017 | |||||
|
3 | 1 | 230169242 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 230160406 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.080 | 1 | 109757069 | missense variant | G/A | snv | 9.4E-02 | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1 | 65652146 | intergenic variant | A/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 65658091 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
11 | 0.790 | 0.160 | 1 | 154446403 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 65687680 | regulatory region variant | C/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 247440161 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 1 | 154434943 | intron variant | A/C;T | snv | 0.39; 4.2E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
8 | 0.851 | 0.120 | 1 | 154448302 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
13 | 1.000 | 0.040 | 2 | 210678331 | 3 prime UTR variant | T/C | snv | 0.28 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
3 | 2 | 241357034 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
1 | 2 | 102115231 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
1 | 2 | 241298487 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 2 | 102110201 | intron variant | A/G | snv | 0.62 | 0.800 | 1.000 | 1 | 2013 | 2013 |